HPSE2
Identifiers
AliasesHPSE2, HPA2, HPR2, UFS, UFS1, heparanase 2 (inactive)
External IDsOMIM: 613469 MGI: 2685814 HomoloGene: 19680 GeneCards: HPSE2
Orthologs
SpeciesHumanMouse
Entrez

60495

545291

Ensembl

ENSG00000172987

ENSMUSG00000074852

UniProt

Q8WWQ2

B2RY83

RefSeq (mRNA)

NM_001166244
NM_001166245
NM_001166246
NM_021828

NM_001081257

RefSeq (protein)

NP_001159716
NP_001159717
NP_001159718
NP_068600

NP_001074726

Location (UCSC)Chr 10: 98.46 – 99.24 MbChr 19: 42.77 – 43.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heparanase-2 is an enzyme that in humans is encoded by the HPSE2 gene.[5][6]


It may be associated with urofacial syndrome.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000172987 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074852 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M (Oct 2000). "Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member". Biochem Biophys Res Commun. 276 (3): 1170–7. doi:10.1006/bbrc.2000.3586. PMID 11027606.
  6. "Entrez Gene: HPSE2 heparanase 2".
  7. Daly SB, Urquhart JE, Hilton E, et al. (June 2010). "Mutations in HPSE2 Cause Urofacial Syndrome". Am J Hum Genet. 86 (6): 963–969. doi:10.1016/j.ajhg.2010.05.006. PMC 3032078. PMID 20560210.

Further reading


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